DETERMINATION OF THE RELATIONSHIP BETWEEN ANTICONVULSANT TREATMENT RESPONSE DURATION AND CYTOCHROME P450 POLYMORPHISMS IN CASES WITH AFEBRILE AND FEBRILLE CONVULSIONS

Project no. 22277 · Status: Kapanmış · 2020

Summary

Seizures are one of the most common neurological disorders in childhood and can lead to mortality and morbidity if not treated early and appropriately. Among childhood seizures, febrile convulsions (FC) are the most common cause of seizures and are most common between 6 months and 5 years of age. They are seizures triggered by fever caused by an infection outside the central nervous system and are seen in 2% to 5% of children under the age of 5.  Various anticonvulsant drugs are used in the acute treatment of seizures against the risk of status epilepticus in childhood convulsions. Diazepam, the benzodiazepine derivative, is the most commonly used drug and is used for anxiolytic, myorelaxant, sedative and hypnotic purposes. The cytochrome P450 system is one of the enzyme systems responsible for drug metabolism and mostly found in the liver. Many genes and polymorphisms in these genes are effective in the functioning of this enzyme system.  Polymorphism; Variants in a gene are found in more than 1% of the population and do not cause a known disease. However, polymorphisms may be effective in differentiating a person's risk of contracting the disease, their response to the disease, and the side effects observed against drugs. Polymorphisms in the genes in the cytochrome P450 system can also change a person's response to drugs.  Our study aimed to evaluate whether polymorphisms in these genes have an effect on the duration of response to treatment in pediatric patients with febrile and afebrile convulsions. To our work; Cases between the ages of 0-18 who applied to Ege University Faculty of Medicine, Pediatric Emergency Service with a complaint of convulsion in the last two years, were treated with diazepam and met the inclusion criteria for the study will be included. The clinical, laboratory and treatment response activities of the cases will be scanned retrospectively from the patient files, and a total of 3 polymorphisms in the CYP2C19 gene (rs4244285, rs4986893, rs12248560) in the cytochrome P450 system will be studied in the blood samples to be collected from the cases. In the light of the data obtained, the effect of the polymorphism found in the cases on the response time to diazepam will be investigated.

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